Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing
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Title
Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 22, Issue 7, Pages 1395-1403
Publisher
Oxford University Press (OUP)
Online
2013-01-10
DOI
10.1093/hmg/dds556
References
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Related references
Note: Only part of the references are listed.- Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era
- (2012) Nadine Norton et al. Circulation-Cardiovascular Genetics
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- Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy
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- Desmin-related cardiomyopathy: an unfolding story
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- Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy
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- Generation of Induced Pluripotent Stem Cells from Urine
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- Exome sequencing as a tool for Mendelian disease gene discovery
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- Myofibrillar myopathies
- (2011) Duygu Selcen NEUROMUSCULAR DISORDERS
- High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study
- (2011) Karim Wahbi et al. NEUROMUSCULAR DISORDERS
- UniProt Knowledgebase: a hub of integrated protein data
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- BEDTools: a flexible suite of utilities for comparing genomic features
- (2010) Aaron R. Quinlan et al. BIOINFORMATICS
- ROCK Inhibition Facilitates the Generation of Human-Induced Pluripotent Stem Cells in a Defined, Feeder-, and Serum-Free System
- (2010) Wing-Hon Lai et al. Cellular Reprogramming
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
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- Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain
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- A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene
- (2010) D. Hong et al. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
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